Submissions for variant NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)

dbSNP: rs779588655

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002518773	SCV003461697	pathogenic	not provided	2023-04-30	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe388Serfs*40) in the SLC12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A1 are known to be pathogenic (PMID: 8640224, 9585600, 19096086). This variant is present in population databases (rs779588655, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of Bartter syndrome (PMID: 28893421). This variant is also known as c.1157delT p.Ile386fs. ClinVar contains an entry for this variant (Variation ID: 265999). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000256407	SCV000323158	pathogenic	Bartter disease type 1		no assertion criteria provided	clinical testing
Yale Center for Mendelian Genomics, Yale University	RCV000662326	SCV000784658	likely pathogenic	Nephrocalcinosis; Nephrolithiasis	2017-09-08	no assertion criteria provided	literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV000256407	SCV003927826	pathogenic	Bartter disease type 1	2023-04-01	no assertion criteria provided	clinical testing